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001-es BibID:	BIBFORM065366
Első szerző:	Tóth Tamás (gyermekgyógyász)
Cím:	Prenatal detection of trisomy 13 from amniotic fluid by quantitative fluorescent polymerase chain reaction / Tóth T., Findlay I., Papp C., Tóth-Pál E., Marton T., Nagy B., Quirke P., Papp Z.
Dátum:	1998
ISSN:	0197-3851
Megjegyzések:	Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis from amniotic fluid. However, this requires lengthy laboratory procedures, high costs and is unsuitable for large-scale screening of pregnant women. An alternative method, which is rapid, inexpensive and suitable for diagnosing trisomies, even from single fetal cells, is the fluorescent polymerase chain reaction (PCR) using polymorphic small tandem repeats (STRs). In this paper, we present the method of rapid prenatal detection of trisomy 13 from amniotic fluid using fluorescent PCR and two highly polymorphic STRs (D13S258 and D13S631). The results obtained by quantitative fluorescent PCR amplification of fetal DNA were concordant with amniocyte karyotyping results in all cases. Two cases of trisomy 13 were detected from 212 amniotic fluids and the results obtained from D13S631 and D13S258 amplification are presented. In the first trisomy 13 case, a triallelic pattern was detected by both markers, and in the second case, D13 markers showed a characteristic 2:1 dosage allele ratio, both of which demonstrate trisomy 13 status. All other heterozygous disomic samples showed an allele intensity ratio of 1:1.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban trisomy 13 amniotic fluid quantitative fluorescent PCR
Megjelenés:	Prenatal Diagnosis. - 18 (1998), p. 669-674. -
További szerzők:	Findlay, Ian Papp Csaba (szülész-nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Marton Tamás Nagy Bálint (1956-) (molekuláris genetikus) Quirke, Philip Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
Internet cím:	Szerző által megadott URL Intézményi repozitóriumban (DEA) tárolt változat
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